A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524259



Internal ID15104866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29071233..29086233hg38UCSC Ensembl
Innerchr22:29467221..29482221hg19UCSC Ensembl
Innerchr22:27797221..27812221hg18UCSC Ensembl
Innerchr22:27791775..27806775hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3815001
hg1915001
hg1815001
hg1715001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700156
Samples
Known GenesKREMEN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524259
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer